Sugi Variant

Sugi Variant/CAD

CAD — 2216 ClinVar variants

All ClinVar germline CAD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 685 flagged for review →

62 Pathogenic · 2 Pathogenic/Likely pathogenic · 33 Likely pathogenic · 32 Conflicting · 61 Benign · 13 Benign/Likely benign · 1289 Likely benign · 724 Uncertain significance

Full CAD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 685

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 12

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 326

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 326

Predictors split 344

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 344

All CAD variants

Pathogenic 62

Pathogenic/Likely pathogenic 2

  • p.Arg1810Gln Multiple submitters infantile epileptic-dyskinetic encephalopathy ⚠
  • p.Gln1913fs Multiple submitters developmental and epileptic encephalopathy, 50

Likely pathogenic 33

Conflicting classifications of pathogenicity 32

Benign 61

Benign/Likely benign 13

Likely benign 1289

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 724

Showing the top 300 by review status; the full set is in the sitemap.